Correlation of NPM1 immunohistochemistry with mutation subtypes, clinicopathologic variables and molecular testing in AML with NPM1 mutation.
2/5 보강
TL;DR
NPM1m IHC is a sensitive and timely surrogate marker for insertional NPM1 mutations, correlating well with molecular results and useful in both immediate diagnosis and MRD evaluation.
OpenAlex 토픽 ·
Acute Myeloid Leukemia Research
Microtubule and mitosis dynamics
Nuclear Structure and Function
NPM1m IHC is a sensitive and timely surrogate marker for insertional NPM1 mutations, correlating well with molecular results and useful in both immediate diagnosis and MRD evaluation.
- 표본수 (n) 28
- p-value p = 0.03
APA
Sharon Koorse Germans, Olga Weinberg, et al. (2026). Correlation of NPM1 immunohistochemistry with mutation subtypes, clinicopathologic variables and molecular testing in AML with NPM1 mutation.. Human pathology, 171, 106073. https://doi.org/10.1016/j.humpath.2026.106073
MLA
Sharon Koorse Germans, et al.. "Correlation of NPM1 immunohistochemistry with mutation subtypes, clinicopathologic variables and molecular testing in AML with NPM1 mutation.." Human pathology, vol. 171, 2026, pp. 106073.
PMID
41679345 ↗
Abstract 한글 요약
[BACKGROUND] Nucleophosmin 1 (NPM1) mutations define a major molecular subtype of acute myeloid leukemia (AML). Although RT-PCR and next-generation sequencing (NGS) remain the gold standard for diagnosis and minimal/measurable residual disease (MRD) assessment, NPM1 mutant-specific immunohistochemistry (NPM1m IHC) using monoclonal antibodies presents a rapid and cost-effective alternative. Correlation between NPM1m IHC patterns and specific NPM1 mutation subtypes remain underexplored.
[OBJECTIVES] Evaluate the diagnostic utility of NPM1m IHC in AML with NPM1 mutation and to assess its correlation with mutation subtypes, morphologic features, cytogenetic profiles, co-mutations, and clinical outcomes.
[METHODS] A retrospective cohort of 36 AML cases with confirmed NPM1 mutations (2018-2024) were analyzed for clinicopathologic variables, cytogenetics, PCR/NGS data, and NPM1m IHC results with subgroup analysis between Type A (n = 28) and non-Type A (n = 8) mutations.
[RESULTS] NPM1m IHC positivity was observed in all insertional NPM1 mutation subtypes with two distinct staining patterns: homogeneous and two-toned, with two-toned pattern more frequent in Type A mutations. Non-Type A mutations were more often associated with complex karyotypes and showed a trend toward less frequent FLT3 co-mutations. Monocytic differentiation and cup-like nuclear morphology were assessed in both subgroups. No significant difference in survival or remission rates was observed between groups, although Type A mutations exhibited higher rates of dysplasia (p = 0.03).
[CONCLUSION] NPM1m IHC is a sensitive and timely surrogate marker for insertional NPM1 mutations, correlating well with molecular results and useful in both immediate diagnosis and MRD evaluation. This study reveals subtype-specific morphologic and cytogenetic associations and highlights the need for further investigation into non-insertional NPM1 mutations and their detection challenges.
[OBJECTIVES] Evaluate the diagnostic utility of NPM1m IHC in AML with NPM1 mutation and to assess its correlation with mutation subtypes, morphologic features, cytogenetic profiles, co-mutations, and clinical outcomes.
[METHODS] A retrospective cohort of 36 AML cases with confirmed NPM1 mutations (2018-2024) were analyzed for clinicopathologic variables, cytogenetics, PCR/NGS data, and NPM1m IHC results with subgroup analysis between Type A (n = 28) and non-Type A (n = 8) mutations.
[RESULTS] NPM1m IHC positivity was observed in all insertional NPM1 mutation subtypes with two distinct staining patterns: homogeneous and two-toned, with two-toned pattern more frequent in Type A mutations. Non-Type A mutations were more often associated with complex karyotypes and showed a trend toward less frequent FLT3 co-mutations. Monocytic differentiation and cup-like nuclear morphology were assessed in both subgroups. No significant difference in survival or remission rates was observed between groups, although Type A mutations exhibited higher rates of dysplasia (p = 0.03).
[CONCLUSION] NPM1m IHC is a sensitive and timely surrogate marker for insertional NPM1 mutations, correlating well with molecular results and useful in both immediate diagnosis and MRD evaluation. This study reveals subtype-specific morphologic and cytogenetic associations and highlights the need for further investigation into non-insertional NPM1 mutations and their detection challenges.
🏷️ 키워드 / MeSH 📖 같은 키워드 OA만
같은 제1저자의 인용 많은 논문 (1)
🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
- A Phase I Study of Hydroxychloroquine and Suba-Itraconazole in Men with Biochemical Relapse of Prostate Cancer (HITMAN-PC): Dose Escalation Results.
- Self-management of male urinary symptoms: qualitative findings from a primary care trial.
- Clinical and Liquid Biomarkers of 20-Year Prostate Cancer Risk in Men Aged 45 to 70 Years.
- Diagnostic accuracy of Ga-PSMA PET/CT versus multiparametric MRI for preoperative pelvic invasion in the patients with prostate cancer.
- Clinical Presentation and Outcomes of Patients Undergoing Surgery for Thyroid Cancer.
- Association of patient health education with the postoperative health related quality of life in low- intermediate recurrence risk differentiated thyroid cancer patients.